Neuroendocriniie phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation
X-linked hypophosphataemic rickets (XLH), which is the commonest of the hypophosphataemic syndromes, is caused by inactivating mutations
in the PHEX gene, which result in elevations of FGF23.
3]) Inactivating mutations
in both TPO alleles have been found in patients with CH caused by TIOD.
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation
of the TSH receptor gene.
These individuals may be less rare than previously thought--an exome sequencing study of approximately 7000 Pakistani individuals identified homozygous protein inactivating mutations
in 961 genes, several of which relate to targets of drugs currently in development (5).
2010) Inactivating mutations
of the histone methyltransferase gene EZH2 in myeloid disorders.
2 Up to 96% of clear cells RCC are associated with 3p deletion including somatic inactivating mutations
of the VHL gene.
Different inactivating mutations
of the mineralocorticoid receptor in fourteen families affectedby type I pseudohypoaldosteronism.
Remarkably, all XP variant patients examined so far have been shown to carry inactivating mutations
in the gene that encodes Pol [eta].
and from Germany, Solomon showed that inactivating mutations
in the STAG2 gene are present in 36 percent of noninvasive papillary bladder tumors, but in only 16 percent of the recurrent, invasive variety.